NCAPH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 144357	GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3	ADRA2B, ANKRD23 +126 more	Copy number gain	See cases	GUncertain significance
Select item 148751	GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3	ADRA2B, ANKRD23 +131 more	Copy number gain	See cases	GUncertain significance
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 160960	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 144712	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1	ADRA2B, ANKRD23 +119 more	Copy number loss	See cases	GPathogenic
Select item 57543	GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1	ADRA2B, ANKRD23 +126 more	Copy number loss	See cases	GPathogenic
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 545284	NC_000002.12:g.(?_96063558)_(97079140_?)del	ADRA2B, ANKRD23 +115 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153955	GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 155075	GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3	ADRA2B, ANKRD23 +123 more	Copy number gain	See cases	GLikely benign
Select item 154733	GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1	KANSL3, LMAN2L +123 more	Copy number loss	See cases	GPathogenic
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 57434	GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1	ADRA2B, ANKRD23 +121 more	Copy number loss	See cases	GPathogenic
Select item 154747	GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3	ADRA2B, ANKRD23 +121 more	Copy number gain	See cases	GUncertain significance
Select item 3035844	NM_015341.5(NCAPH):c.-1G>A	NCAPH	Single nucleotide variant (5 prime UTR variant)	NCAPH-related disorder	GLikely benign
Select item 3065922	NM_015341.5(NCAPH):c.19+1G>C	NCAPH	Single nucleotide variant (splice donor variant)	Microcephaly 23, primary, autosomal recessive	GLikely pathogenic
Select item 1176094	NM_015341.5(NCAPH):c.20-3del	NCAPH	Deletion (intron variant)	not provided	GUncertain significance
Select item 2530513	NM_015341.5(NCAPH):c.97G>T (p.Val33Leu)	NCAPH (V22L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053109	NM_015341.5(NCAPH):c.99G>T (p.Val33=)	NCAPH	Single nucleotide variant (synonymous variant +1 more)	NCAPH-related disorder	GLikely benign
Select item 2570389	NM_015341.5(NCAPH):c.104C>T (p.Pro35Leu)	NCAPH (P35L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313765	NM_015341.5(NCAPH):c.104C>G (p.Pro35Arg)	NCAPH (P11R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532560	NM_015341.5(NCAPH):c.125C>T (p.Ala42Val)	NCAPH (A18V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519164	NM_015341.5(NCAPH):c.146C>G (p.Thr49Ser)	NCAPH (T25S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477776	NM_015341.5(NCAPH):c.148C>G (p.Pro50Ala)	NCAPH (P26A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599759	NM_015341.5(NCAPH):c.205C>T (p.Arg69Cys)	NCAPH (R45C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298734	NM_015341.5(NCAPH):c.239A>T (p.Asp80Val)	NCAPH (D69V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252314	NM_015341.5(NCAPH):c.248G>A (p.Arg83His)	NCAPH (R72H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340957	NM_015341.5(NCAPH):c.269G>A (p.Ser90Asn)	NCAPH (S66N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298736	NM_015341.5(NCAPH):c.271A>G (p.Arg91Gly)	NCAPH (R67G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053836	NM_015341.5(NCAPH):c.295A>G (p.Ile99Val)	NCAPH (I75V +2 more)	Single nucleotide variant (missense variant +1 more)	NCAPH-related disorder	GBenign
Select item 2365984	NM_015341.5(NCAPH):c.374C>T (p.Thr125Ile)	NCAPH (T114I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298730	NM_015341.5(NCAPH):c.514G>A (p.Val172Ile)	NCAPH (V148I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298733	NM_015341.5(NCAPH):c.523G>A (p.Asp175Asn)	NCAPH (D151N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038915	NM_015341.5(NCAPH):c.525T>C (p.Asp175=)	NCAPH	Single nucleotide variant (synonymous variant)	NCAPH-related disorder	GLikely benign
Select item 2241284	NM_015341.5(NCAPH):c.592G>C (p.Ala198Pro)	NCAPH (A187P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041518	NM_015341.5(NCAPH):c.596-4T>G	NCAPH	Single nucleotide variant (intron variant)	NCAPH-related disorder	GLikely benign
Select item 716739	NM_015341.5(NCAPH):c.661A>G (p.Arg221Gly)	NCAPH (R221G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2455969	NM_015341.5(NCAPH):c.727C>T (p.Pro243Ser)	NCAPH (P232S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 524196	NM_015341.5(NCAPH):c.728C>T (p.Pro243Leu)	NCAPH (P243L +3 more)	Single nucleotide variant (missense variant)	Microcephaly 23, primary, autosomal recessive	GPathogenic
Select item 3250535	NM_015341.5(NCAPH):c.830C>T (p.Pro277Leu)	NCAPH (P141L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2551430	NM_015341.5(NCAPH):c.859G>C (p.Glu287Gln)	NCAPH (E151Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325984	NM_015341.5(NCAPH):c.883G>C (p.Gly295Arg)	NCAPH (G295R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595095	NM_015341.5(NCAPH):c.911C>T (p.Ala304Val)	NCAPH (A168V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363219	NM_015341.5(NCAPH):c.937C>T (p.Arg313Cys)	NCAPH (R302C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298735	NM_015341.5(NCAPH):c.961G>T (p.Gly321Trp)	NCAPH (G185W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053920	NM_015341.5(NCAPH):c.998A>G (p.Asn333Ser)	NCAPH (N197S +3 more)	Single nucleotide variant (missense variant)	NCAPH-related disorder	GLikely benign
Select item 769568	NM_015341.5(NCAPH):c.1002+9A>G	NCAPH	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3181530	NM_015341.5(NCAPH):c.1010C>T (p.Ser337Leu)	NCAPH (S326L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045660	NM_015341.5(NCAPH):c.1018G>A (p.Val340Ile)	NCAPH (V204I +3 more)	Single nucleotide variant (missense variant)	NCAPH-related disorder	GLikely benign
Select item 1321857	NM_015341.5(NCAPH):c.1131T>C (p.Asp377=)	NCAPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3257606	NM_015341.5(NCAPH):c.1134A>G (p.Glu378=)	NCAPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773426	NM_015341.5(NCAPH):c.1150G>A (p.Val384Ile)	NCAPH (V248I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2540588	NM_015341.5(NCAPH):c.1228G>A (p.Gly410Arg)	NCAPH (G399R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181541	NM_015341.5(NCAPH):c.1300C>T (p.Arg434Trp)	NCAPH (R410W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535169	NM_015341.5(NCAPH):c.1346C>G (p.Pro449Arg)	NCAPH (P425R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342705	NM_015341.5(NCAPH):c.1351C>T (p.Arg451Cys)	NCAPH (R315C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2474672	NM_015341.5(NCAPH):c.1394G>A (p.Ser465Asn)	NCAPH (S329N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035352	NM_015341.5(NCAPH):c.1465-8dup	NCAPH	Duplication (intron variant)	NCAPH-related disorder	GLikely benign
Select item 872328	NM_015341.5(NCAPH):c.1493T>C (p.Leu498Ser)	NCAPH (L362S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321858	NM_015341.5(NCAPH):c.1616T>C (p.Val539Ala)	NCAPH (V403A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 745992	NM_015341.5(NCAPH):c.1699-8T>C	NCAPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2306506	NM_015341.5(NCAPH):c.1705G>A (p.Asp569Asn)	NCAPH (D545N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298731	NM_015341.5(NCAPH):c.1731C>G (p.Asp577Glu)	NCAPH (D441E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181556	NM_015341.5(NCAPH):c.1744C>A (p.Pro582Thr)	NCAPH (P446T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231999	NM_015341.5(NCAPH):c.1747G>C (p.Val583Leu)	NCAPH (V572L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263688	NM_015341.5(NCAPH):c.1775C>T (p.Pro592Leu)	NCAPH (P456L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027975	NM_015341.5(NCAPH):c.1867G>A (p.Ala623Thr)	NCAPH (A487T +3 more)	Single nucleotide variant (missense variant)	Microcephaly 23, primary, autosomal recessive	GUncertain significance
Select item 2309801	NM_015341.5(NCAPH):c.1878G>C (p.Gln626His)	NCAPH (Q490H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481497	NM_015341.5(NCAPH):c.1907C>A (p.Ala636Asp)	NCAPH (A612D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027976	NM_015341.5(NCAPH):c.1952T>C (p.Met651Thr)	NCAPH (M640T +3 more)	Single nucleotide variant (missense variant)	Microcephaly 23, primary, autosomal recessive	GUncertain significance
Select item 730784	NM_015341.5(NCAPH):c.1971G>A (p.Ala657=)	NCAPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2382016	NM_015341.5(NCAPH):c.2027C>T (p.Ala676Val)	NCAPH (A665V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571081	NM_015341.5(NCAPH):c.2073G>A (p.Thr691=)	NCAPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056611	NM_015341.5(NCAPH):c.2091-4C>G	NCAPH	Single nucleotide variant (intron variant)	NCAPH-related disorder	GBenign
Select item 2261946	NM_015341.5(NCAPH):c.2131G>T (p.Ala711Ser)	NCAPH (A711S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181566	NM_015341.5(NCAPH):c.2137G>A (p.Ala713Thr)	NCAPH (A689T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1443631	NC_000002.11:g.(?_96780545)_(97475254_?)dup	ADRA2B, ARID5A +12 more	Duplication	not provided	GUncertain significance
Select item 1340229	GRCh37/hg19 2q11.1-11.2(chr2:96544603-98025634)x3	ADRA2B, ANKRD23 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1047904	GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)	CIAO1, CNNM3 +19 more	Copy number loss	Cleft lip +1 more	GPathogenic
Select item 997821	Single allele	ANKRD36B, ANKRD39 +20 more	Deletion	Intellectual disability	GPathogenic
Select item 980467	GRCh37/hg19 2q11.1-11.2(chr2:96544602-97706860)x3	ADRA2B, ANKRD23 +19 more	Copy number gain	not provided	GUncertain significance
Select item 980466	GRCh37/hg19 2q11.1-11.2(chr2:96421161-97765561)x1	ASTL, CIAO1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 980465	GRCh37/hg19 2q11.1-11.2(chr2:96515883-98162176)x3	ARID5A, ASTL +22 more	Copy number gain	not provided	GUncertain significance

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